Framing the research agenda for sickle cell trait: building on the current understanding of clinical events and their potential implications.

Framing the research agenda for sickle cell trait: building on the current understanding of clinical events and their potential implications.
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DOI:
10.1002/ajh.22271
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发表时间:
2012-03
影响因子:
12.8
通讯作者:
Steinberg, Martin H.
Steinberg, Martin H.
中科院分区:
医学1区
文献类型:
--
作者:
Goldsmith, Jonathan C.;Bonham, Vence L.;Joiner, Clinton H.;Kato, Gregory J.;Noonan, Allan S.;Steinberg, Martin H.

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镰状细胞性状(HbAS)是镰状血红蛋白β球蛋白基因的杂合状态,由多达1亿个体携带,包括世界上某些地区高达25%的人口(世界卫生组织,临时议程项目4.8,EB 117/34(2005年12月22日)或世界卫生组织,临时议程项目11.4(2006年4月24日)。患有HbAS的人在幼儿期对恶性疟疾感染具有一定的抵抗力(Piel FB,Patil AP,Howes RE等人,Nat Commun 2010;1104:1-7和Aidoo M,Terlouw DJ,Kolczak M等人,柳叶刀2002; 359:1311-1312),因此生活在非洲疟疾流行地区的HbAS个体比HbAA个体具有生存优势。来自美国的报告强调了HbAS患者可能存在的健康风险,包括肾衰竭和恶性肿瘤、血栓栓塞性疾病、脾梗死(作为高海拔并发症)和运动相关猝死的发生率增加。2010年6月3日至4日,美国国立卫生研究院国家心肺血液研究所在马里兰州贝塞斯达召开了一次研讨会,制定镰状细胞特征研究议程,以审查HbAS的临床表现,讨论HbAS中与运动相关的猝死报告,并检查HbAS相关政策的公共卫生、社会和伦理影响。讲习班的目标是确定潜在的研究问题,以弥补知识差距。
Sickle Cell Trait (HbAS), the heterozygous state for the sickle hemoglobin beta globin gene is carried by as many as 100 million individuals including up to 25% of the population in some regions of the world (World Health Organization, Provisional agenda item 4.8, EB117/34 (22 December 2005) or World Health Organization, Provisional agenda item 11.4 (24 April 2006)). Persons with HbAS have some resistance to falciparum malaria infection in early childhood (Piel FB, Patil AP, Howes RE, et al., Nat Commun 2010;1104:1–7 and Aidoo M, Terlouw DJ, Kolczak M, et al., Lancet 2002;359:1311–1312) and as a result individuals with HbAS living in malarial endemic regions of Africa have a survival advantage over individuals with HbAA. Reports from the US emphasize possible health risks for individuals with HbAS including increased incidence of renal failure and malignancy, thromboembolic disorders, splenic infarction as a high altitude complication, and exercise-related sudden death. The National Heart, Lung, and Blood Institute, National Institutes of Health convened a workshop in Bethesda, Maryland on June 3–4, 2010, Framing the Research Agenda for Sickle Cell Trait, to review the clinical manifestations of HbAS, discuss the exercise-related sudden death reports in HbAS, and examine the public health, societal, and ethical implications of policies regarding HbAS. The goal of the workshop was to identify potential research questions to address knowledge gaps.
DOI: 10.1097/00007611-195707000-00014
发表时间: 1957-07-01
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